Arthrogryposis and Congenital Myasthenic Syndrome Precision Panel

Home , Arthrogryposis, Brachydactyly, Lissencephaly

Overview Arthrogryposis or arthrogryposis multiplex congenita (AMC) is a group of nonprogressive conditions characterized by multiple joint contractures found throughout the body at birth. It usually appears as a feature of other neuromuscular conditions or part of systemic diseases. Primary cases may present prenatally with decreased fetal movements associated with joint contractures as well as brain abnormalities, decreased muscle bulk and polyhydramnios whereas secondary causes may present with isolated contractures. Congenital Myasthenic Syndromes (CMS) are a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. Clinically they usually present with abnormal fatigability upon exertion, transient weakness of extra-ocular, facial, bulbar, truncal or limb muscles. Severity ranges from mild, phasic weakness, to disabling permanent weakness with respiratory difficulties and ultimately death. The mode of inheritance of these diseases typically follows and autosomal recessive pattern, although dominant forms can be seen.

The Igenomix Arthrogryposis and Congenital Myasthenic Syndrome Precision Panel can be as a tool for an accurate diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved, and their high or intermediate penetrance.

Indications The Igenomix Arthrogryposis and Congenital Myasthenic Syndrome Precision Panel is used for patients with a clinical suspicion or diagnosis with or without the following symptoms:

‐ Limb deformities: compression, absent patella, dislocated radial heads etc ‐ Connective tissue abnormalities: pterygium, shortening, webs etc ‐ Facial deformities: asymmetry, flat nasal bridge, hemangioma ‐ Jaw deformities ‐ Scoliosis ‐ Facial deformities ‐ Hernias ‐ Seizures ‐ Joint contractures ‐ Fatigable weakness at birth affecting ocular and other cranial muscles: ocular, bulbar, limb muscles 1

‐ Respiratory insufficiency with sudden apnea ‐ Feeding difficulties ‐ Positive family history of congenital myasthenic syndrome

Clinical Utility

The clinical utility of this panel is: ‐ The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. ‐ Early initiation of treatment involving a multidisciplinary team focusing on intensive physiotherapy and rehabilitation, bracing and surgical interventions and medical care with acetylcholinesterase inhibitors. ‐ Risk assessment of asymptomatic family members according to the mode of inheritance via genetic counselling. ‐ Improvement of delineation of genotype-phenotype correlation given the variability of severity and course of disease.

Genes & Diseases

% GENE GENE OMIM DISEASES INHERITANCE* COVERAGE HGMD** (20X) Permanent Neonatal Diabetes Mellitus With Or Without Neurologic 710 of ABCC8 AD,AR 99.98 Features, Dend Syndrome 712 181 of ACADM Medium Chain Acyl-CoA Dehydrogenase Deficiency AR 99.98 181 Congenital Myopathy With Fiber-Type Disproportion, Nemaline 224 of ACTA1 AD,AR 100 Myopathy, Zebra Body Myopathy 224 Lethal Congenital Contracture Syndrome, Hypomyelination Neuropathy- ADCY6 AR 100 2 of 2 Arthrogryposis Syndrome ADGRG6 Lethal Congenital Contracture Syndrome AR 99.91 NA of NA AGRN Congential Myasthenic Syndrome AR 99.71 18 of 18 Hypomyelinating Leukodystrophy, Autosomal Recessive Non-Syndromic AIMP1 AR 100 10 of 10 Intellectual Disability AK9 Postsynaptic Congenital Myasthenic Syndromes - 98.37 4 of 4 ALG14 Congenital Myasthenic Syndrome AR 99.99 7 of 7 ALG2 Congenital Disorder Of Glycosylation Type II AR 99.61 7 of 7 ALG3 Congenital Disorder Of Glycosylation Type Id AR 99.2 25 of 25 ASCC1 Spinal Muscular Atrophy With Congenital Bone Fractures AR 99.97 6 of 6 ATAD1 Hereditary Hyperekplexia AR 99.97 3 of 3 AUTS2 Autosomal Dominant Metal Retardation, Autism Spectrum Disorder AD 99.63 9 of 17 BICD2 Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy AD 99.94 39 of 39 Autosomal Recessive Centronuclear Myopathy, Autosomal Dominant BIN1 AR 100 20 of 20 Centronuclear Myopathy Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive C12ORF65 AR na na Spastic Paraplegia CACNA1E Epileptic Encephalopathy AD 99.94 25 of 25 Nonspherocytic Hemolytic Anemia, Mental Retardation And CASK Microcephaly With Pontine And Cerebellar Hypoplasia, Early Infantile X,XR,XD,G 99.98 NA of NA Epileptic Encephalopathy CCDC47 Trichohepatoneurodevelopmental Syndrome AR 99.94 5 of 5 CDK5 Lissencephaly With Cerebellar Hypoplasia AR 100 5 of 5 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar CEP55 AR 99.22 3 of 3 Hypoplasia, And Hydranencephaly, Meckel Syndrome CFL2 Nemaline Myopathy AR 99.98 9 of 9 CHAT Congenital Myasthenic Syndrome Associated With Episodic Apnea AR 100 49 of 49 CHMP1A Pontocerebellar Hypoplasia Type 8 AR 100 4 of 4 CHRNA1 Multiple Pterygium Syndrome, Congenital Myasthenic Syndrome AD,AR 100 35 of 35

CHRNB1 Congential Myasthenic Syndrome AD,AR 95 9 of 9 Multiple Pterygium Syndrome, Congenital Myasthenic Syndrome, CHRND AD,AR 100 31 of 31 Congenital 138 of CHRNE Familial Infantile Myasthenia, Congenital Myasthenic Syndrome AD,AR 99.87 138 CHRNG Multiple Pterygium Syndrome AR 100 36 of 36 CHST14 Musculocontractural Ehlers-Danlos Syndrome AR 97.7 21 of 22 CHUK Cocoon Syndrome AR 100 5 of 5 Lethal Congenital Contracture Syndrome, Congenital Hypomyelinating CNTNAP1 AR 99.97 25 of 25 Neuropathy COL13A1 Congenital Myasthenic Syndrome AR 99.97 16 of 16 Bethlem Myopathy , Congenital Myosclerosis, Ullrich Congenital 223 of COL6A2 AD,AR 100 Muscular Dystrophy 225 Endplate Acetylcholinesterase Deficiency, Synaptic Congenital COLQ AR 100 70 of 71 Myasthenic Syndromes DHCR24 Desmosterolosis AR 100 10 of 10 Fetal Akinesia Deformation Sequence, Limb-Girdle Myasthenia, DOK7 AR 99.88 72 of 72 Postsynaptic Congenital Myasthenic Syndromes Congenital Disorder Of Glycosylation, Type Ij, Congenital Myasthenic DPAGT1 AR 100 41 of 41 Syndrome DSE Musculocontractural Ehlers-Danlos Syndrome AR 99.94 3 of 3 ECEL1 Distal Arthrogryposis Type 5d AR 99.52 39 of 39 Demyelinating Charcot-Marie-Tooth Disease Type 1d, Hypertrophic EGR2 AD,AR 100 23 of 23 Neuropathy Of Dejerine-Sottas, Congenital Hypomyelinating Neuropathy ERBB3 Lethal Congenital Contracture Syndrome AD,AR 99.91 6 of 6 ERCC1 Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome Type 2 AR 93.12 6 of 6 Cerebrooculofacioskeletal Syndrome, Xeroderma Pigmentosum 102 of ERCC2 Complementation Group D, Xeroderma Pigmentosum-Cockayne AR 100 102 Syndrome Complex Cerebrooculofacioskeletal Syndrome, Xeroderma Pigmentosum ERCC5 Complementation Group G, Xeroderma Pigmentosum-Cockayne AR 99.94 58 of 58 Syndrome Complex Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome Type B, De 127 of ERCC6 AD,AR 99.98 Sanctis-Cacchione Syndrome Type 3 128 ERGIC1 Neurogenic Arthrogryposis Multiplex Congenita AR 100 2 of 2 EXOSC3 Pontocerebellar Hypoplasia Type 1b AR 100 19 of 20 FAM20C Lethal Osteosclerotic Bone Dysplasia AR 97.8 29 of 29 115 of FBN2 Congenital Contractural Arachnodactyly AD 100 115 Reducing Body Myopathy, Scapuloperoneal Myopathy, Uruguay FHL1 Faciocardiomusculoskeletal Syndrome, X-linked Emery-Dreifuss Muscular X,XR,XD,G 99.98 NA of NA Dystrophy Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth Disease Type 4j, FIG4 Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal , AD,AR 99.92 72 of 72 Polymicrogyria, Bilateral Temporooccipital, Yunis-Varon Syndrome Bruck Syndrome, Osteogenesis Imperfecta Type XI, Kuskokwim FKBP10 AR 100 51 of 51 Syndrome Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Limb-Girdle Muscular Dystrophy Type 2m, Congenital FKTN AR 98 54 of 56 Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase FLAD1 AR 97.13 13 of 14 Deficiency Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly FLVCR2 AR 99.97 16 of 16 Syndrome Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification 469 of GBA AD,AR 100 Syndrome, Hereditary Late-Onset Parkinson Disease 471 GBE1 Glycogen Storage Disease IV, Adult Polyglucosan Body Disease AR 99.95 71 of 74 Permanent Neonatal Diabetes Mellitus, Familial Hyperinsulinemic 905 of GCK AD,AR 100 Hypoglycemia 909 GFM2 Combined Oxidative Phosphorylation Deficiency Type 39 AR 99.35 5 of 7 GFPT1 Congenital Myasthenic Syndromes With Glycosylation Defect AR 100 57 of 57 GLDN Lethal Congenital Contracture Syndrome AR 98.46 13 of 13 Congenital Arthrogryposis With Anterior Horn Cell Disease, Lethal GLE1 AR 100 17 of 17 Congenital Contracture Syndrome, Amyotrophic Lateral Sclerosis Greig Cephalopolysyndactyly Syndrome, Congenital Hypothalamic 231 of GLI3 Hamartoma Syndrome, Pallister-Hall Syndrome, Postaxial and Preaxial AD,AR 100 231 Polydactyly, Acrocallosal Syndrome 3

Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Congential Muscular Dystrophy With Cerebellar GMPPB AR 99.95 53 of 53 Involvement, Congenital Myasthenic Syndromes With Glycosylation Defect, Muscle-Eye-Brain Disease Dyssegmental Dysplasia, Silverman-Handmaker Type, Schwartz-Jampel HSPG2 AR 99.41 68 of 69 Syndrome Paternal Uniparental Disomy Of Chromosome 6, Transient Neonatal HYMAI AD na na Diabetes Mellitus Multiple Mitochondrial Dysfunctions Syndrome, Autosomal Recessive IBA57 AR 93.35 25 of 27 Spastic Paraplegia INS Permanent Neonatal Diabetes Mellitus, Hyperproinsulinemia AD,AR 100 78 of 84 Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Junctional ITGA6 AR 100 10 of 10 Epidermolysis Bullosa-Pyloric Atresia Syndrome Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Epidermolysis 115 of ITGB4 AD,AR 99.12 Bullosa Simplex Weber-Cockayne Type, Aplasia Cutis Congenita 115 Genitopatellar Syndrome, Ohdo Syndrome, Blepharophimosis- KAT6B AD 99.97 80 of 80 Intellectual Disability Syndrome KBTBD13 Childhood-Onset Nemaline Myopathy AD 99.66 15 of 15 Permanent Neonatal Diabetes Mellitus With Or Without Neurologic 190 of KCNJ11 AD,AR 100 Features, Hyperinsulinemic Hypoglycemia, Dend Syndrome 191 KIAA1109 Alkuraya-Kucinskas Syndrome AR 99.95 21 of 21 KIF14 Meckel Syndrome, Autosomal Recessive Primary Microcephaly AR 99.84 18 of 18 Autosomal Dominant Mental Retardation Neuropathy, Hereditary KIF1A Sensory And Autonomic Type II, Autosomal Spastic Paraplegia Type 30, AD,AR 100 76 of 76 Peho Syndrome KIF5C Cortical Dysplasia, Complex, With Other Brain Malformations AD 99.96 7 of 7 KLHL40 Severe Congenital Nemaline Myopathy AR 99.98 26 of 26 KLHL41 Childhood-Onset Nemaline Myopathy AR 99.92 8 of 8 129 of LAMB2 Pierson Syndrome , Synaptic Congenital Myasthenic Syndromes AR 100 129 Arthrogryposis Multiplex Congenita, Neurogenic, With Myelin Defect , LGI4 AR 99.86 9 of 9 Hypomyelination Neuropathy-Arthrogryposis Syndrome Charcot-Marie-Tooth Disease Axonal Type 2b1 , Emery-Dreifuss Muscular Dystrophy, Heart-Hand Syndrome, Hutchinson-Gilford Progeria 619 of LMNA Syndrome, Familial Partial Lipodystrophy Type 2, Malouf Syndrome, AD,AR 100 620 Mandibuloacral Dysplasia, Congenital Muscular Dystrophy, Atypical Werner Syndrome LMOD3 Severe Congenital Nemaline Myopathy AR 98.68 23 of 26 Cenani-Lenz Syndactyly Syndrome, Congenital Myasthenic Syndrome, LRP4 AD,AR 100 32 of 32 Sclerosteosis, Cenani-Lenz Syndrome MAGEL2 Prader-Willi Syndrome AD 99.99 43 of 48 Mental Retardation And Distinctive Facial Features With Or Without MED13L AD 100 90 of 92 Cardiac Defects, Developmental Delay-Facial Dysmorphism Syndrome Axonal Type Charcot-Marie-Tooth Disease, Demyelinating Type Charcot- Marie-Tooth Disease, Hypertrophic Neuropathy Of Dejerine-Sottas, 245 of MPZ Congenital Hypomyelinating Neuropathy, Roussy-Levy Hereditary AD,AR 99.98 245 Areflexic Dystasia, Charcot-Marie-Tooth Disease Type 1b, Roussy-Levy Syndrome Myotubular Myopathy, X-linked Centronuclear Myopathy , X-linked MTM1 X,XR,G 99.98 NA of NA Myotubular Myopathy-Abnormal Genitalia Syndrome MUSK Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome AR 95.58 23 of 25 Distal Arthrogryposis Type 1b, Lethal Congenital Contracture Syndrome, MYBPC1 AD,AR 100 13 of 13 Congenital Myopathy With Tremor, Digitotalar Dysmorphism MYH2 Proximal Myopathy And Ophthalmoplegia AD,AR 99.98 31 of 31 Distal Arthrogryposis, Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome, Autosomal Recessive Multiple Pterygium Syndrome, MYH3 AD,AR 100 46 of 47 Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Sheldon-Hall Syndrome MYH8 Carney Complex Variant, Trismus-Pseudocamptodactyly Syndrome AD 100 6 of 6 MYO9A Congenital Myasthenic Syndrome AR 99.62 7 of 7 Congenital Myopathy With Diaphragmatic Defects, Respiratory MYOD1 Insufficiency, And Dysmorphic Facies, Fetal Akinesia Deformation AR 99.97 6 of 6 Sequence MYPN Nemaline Myopathy, Childhood-Onset Nemaline Myopathy AD,AR 99.94 49 of 49 Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon NALCN AD,AR 99.97 69 of 69 Syndrome, Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome, Sheldon-Hall Syndrome 4

Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal 304 of NEB AR 86.77 Nebulin Myopathy 339 Arthrogryposis, Perthes Disease, And Upward Gaze Palsy, Lethal NEK9 AR 99.98 4 of 4 Congenital Contracture Syndrome NUP88 Fetal Akinesia Deformation Sequence AR 95.82 3 of 3 PDX1 Pancreatic Permanent Neonatal Diabetes Mellitus AD,AR 98.02 32 of 36 PHGDH Neu-Laxova Syndrome, Phosphoglycerate Dehydrogenase Deficiency AR 100 26 of 26 Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And PI4KA AR 99.76 4 of 4 Arthrogryposis Distal Arthrogryposis, Gordon Syndrome, Marden-Walker Syndrome, PIEZO2 Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies AD,AR 96.93 37 of 37 Syndrome PIGS Glycosylphosphatidylinositol Biosynthesis Defect AR 100 6 of 6 PIP5K1C Lethal Congenital Contracture Syndrome AR 99.83 3 of 3 Paternal Uniparental Disomy Of Chromosome 6, Transient Neonatal PLAGL1 - 95.56 2 of 2 Diabetes Mellitus Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Epidermolysis 113 of PLEC AD,AR 99.98 Bullosa Simplex 113 PLOD2 Bruck Syndrome AR 99.97 29 of 29 PLXND1 Moebius Syndrome - 98.44 6 of 6 127 of PMM2 Congenital Disorder Of Glycosylation Type Ia AR 100 129 Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual PPP3CA AD 99.98 16 of 16 Development, Undetermined Early-Onset Epileptic Encephalopathy Congenital Myasthenic Syndrome, 2p21 Microdeletion Syndrome, PREPL AR 99.92 7 of 12 Hypotonia-Cystinuria Syndrome PSAT1 Neu-Laxova Syndrome, Phosphoserine Aminotransferase Deficiency AR 99.95 9 of 9 Proteasome-Associated Autoinflammatory Syndrome 1 And Digenic PSMB8 AR 100 11 of 11 Forms RAPSN Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome AR 99.98 59 of 61 RARS2 Pontocerebellar Hypoplasia Type 6 AR 99.98 39 of 40 REV3L Moebius Syndrome 99.08 7 of 7 RFT1 Congenital Disorder Of Glycosylation Type In AR 99.98 18 of 18 Popliteal Pterygium Syndrome Lethal Type, Bartsocas-Papas Syndrome, RIPK4 AR 99.98 16 of 16 Chand Syndrome Central Core Disease Of Muscle, Minicore Myopathy With External Ophthalmoplegia , Myopathy, Congenital, With Fiber-Type 733 of RYR1 Disproportion, Centronuclear Myopathy, Congenital Multicore Myopathy AD,AR 97.63 746 With External Ophthalmoplegia, Congenital Myopathy With Myasthenic- Like Onset Congenital Myasthenic Syndrome, Paramyotonia Congenita Of Von 136 of SCN4A AD,AR 99.77 Eulenburg 142 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To SCO2 AD,AR 100 38 of 38 Copper Metabolism Defect, Leigh Syndrome With Cardiomyopathy Congoenital Myopathy With Fiber-Type Disproportion, Rigid Spine SELENON AD,AR 89 NA of NA Muscular Dystrophy, Classic Multiminicore Myopathy SHPK Isolated Sedoheptulokinase Deficiency - 99.96 2 of 2 SLC18A3 Congenital Myasthenic Syndrome, Fetal Akinesia Deformation Sequence AR 99.97 5 of 5 SLC25A1 Congenital Myasthenic Syndrome AR 90 23 of 25 Arthrogryposis, Mental Retardation, And Seizures, Autism Spectrum SLC35A3 AR 99.94 5 of 5 Disorder-Epilepsy-Arthrogryposis Syndrome Congenital Myasthenic Syndrome, Distal Neuronopathy Hereditary SLC5A7 AD,AR 99.92 21 of 21 Motor Type VIIa SLC6A9 Glycine Encephalopathy With Normal Serum Glycine AR 99.99 5 of 5 SLC9A6 Christianson Syndrome X,XD,G 98.87 NA of NA SMN1 Spinal Muscular Atrophy AR 5.2 17 of 91 SMN2 Spinal Muscular Atrophy AR 7.6 0 of 3 SNAP25 Congenital Myasthenic Syndromes AD 100 6 of 6 139 of SOX10 Peripheral Demyelinating Neuropathy, Waardenburg Syndrome AD 99.74 147 STAC3 Native American Myopathy AR 99.98 5 of 5 Multisystem Autoimmune Disease, Permanent Neonatal Diabetes 171 of STAT3 AD 100 Mellitus 171 Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry STIM1 Defect, Myopathy, Tubular Aggregate, Stormorken Syndrome, AD,AR 100 28 of 28 Stormorken-Sjaastad-Langslet Syndrome, Tubular Aggregate Myopathy Arthrogryposis Multiplex Congenita, Emery-Dreifuss Muscular Dystrophy, 193 of SYNE1 AD,AR 99.99 Autosomal Recessive Spinocerebellar Ataxia 193 5

SYT2 Congenital Myasthenic Syndrome With Or Without Motorneuropathy AD 99.98 4 of 4 Progressive Encephalopathy, Early-Onset, With Brain Atrophy And Thin TBCD AR 94.89 28 of 28 Corpus Callosum Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm And Aortic TGFB3 AD 100 34 of 35 Dissection TK2 External Ophthalmoplegia With Mitochondrial DNA Deletions AR 97.08 64 of 65 Distal Arthrogryposis Type 2b, Digitotalar Dysmorphism, Sheldon-Hall TNNI2 AD 100 11 of 11 Syndrome TNNT1 Nemaline Myopathy AR 89.94 7 of 8 TNNT3 Distal Arthrogryposis, Digitotalar Dysmorphism, Sheldon-Hall Syndrome AD 99.98 5 of 5 Distal Arthrogryposis, Congenital Myopathy With Fiber-type TPM2 Disproportion, Nemaline Myopathy, Cap Myopathy, Digitotalar AD,AR 100 41 of 41 Dysmorphism, Sheldon-Hall Syndrome Congenital Myopathy With Fiber-Type Disproportion, Nemaline TPM3 AD,AR 100 27 of 27 Myopathy, Cap Myopathy Congenital Muscular Dystrophy, Spinal Muscular Atrophy With TRIP4 Congenital Bone Fractures, Congenital Muscular Dystrophy-Respiratory- AR 99.92 3 of 3 Skin Abnormalities-Joint Hyperlaxity Syndrome Brachyrachia, Familial Digital Arthropathy-Brachydactyly, Hereditary Motor And Sensory Neuropathy, Metatropic Dysplasia, Parastremmatic TRPV4 AD 100 88 of 88 Dwarfism, Scapuloperoneal Spinal Muscular Atrophy, Spondylometaphyseal Dysplasia TSEN2 Pontocerebellar Hypoplasia AR 95.47 4 of 5 TSEN54 Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia AR 96.94 20 of 22 UBA1 Infantile-Onset X-linked Spinal Muscular Atrophy X,XR,G 99.58 NA of NA VAMP1 Spastic Ataxia, Congenital Myasthenic Syndrome AD,AR 99.51 8 of 8 VIPAS39 Arthrogryposis, Renal Dysfunction, And Cholestasis AR 100 15 of 15 VPS33B Arthrogryposis, Renal Dysfunction, And Cholestasis AR 100 62 of 62 VRK1 Pontocerebellar Hypoplasia AR 99.64 15 of 15 YY1 Gabriele-de Vries Syndrome AD 99.89 13 of 13 ZBTB42 Lethal Congenital Contracture Syndrome AR 99.81 1 of 1 Wieacker-Wolff Syndrome, Intellectual Disability-Developmental Delay- ZC4H2 X,XR,XD,G 99.69 NA of NA Contractures Syndrome ZFP57 Transient Neonatal Diabetes Mellitus AD 100 15 of 15 Mandibuloacral Dysplasia With Type B Lipodystrophy, Hutchinson-Gilford ZMPSTE24 AR 100 35 of 36 Progeria Syndrome Primary Autosomal Recessive Microcephaly, Microcephalic Primordial ZNF335 AR 99.83 20 of 20 Dwarfism ZNHIT3 Peho Syndrome AR 73.96 1 of 1

*Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial. **Number of clinically relevant mutations according to HGMD

Methodology

Call +34 963 905 310 or send an email to [email protected] for any of the following objectives:

• Get more information about the test. • Request your kit. • Request a pick up of the kit after collecting the sample.

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